U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXF1
(Q62P)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(R86W)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely pathogenic
FOXF1
(S266*)
Single nucleotide variant
(nonsense)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(H357fs)
Deletion
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(K7fs)
Deletion
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(L56F)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GUncertain significance
FOXF1
Microsatellite
(inframe_insertion)
Alveolar capillary dysplasia with pulmonary venous misalignment
GUncertain significance
FOXF1
(G201D)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GUncertain significance
FOXF1
(G281fs)
Deletion
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely pathogenic
FOXF1
(G302fs)
Duplication
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GUncertain significance
FOXF1
(M257I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FOXF1
(H357L)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GUncertain significance
FOXF1
(P299T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
FOXF1
(A297fs)
Deletion
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
Deletion
(nonsense)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(A60V)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely pathogenic
FOXF1
(W92*)
Single nucleotide variant
(nonsense)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
Single nucleotide variant
(5 prime UTR variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GUncertain significance
FOXF1
(S223*)
Single nucleotide variant
(nonsense)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(S80fs)
Microsatellite
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(S101L)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
FOXF1
Single nucleotide variant
(synonymous variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely benign
FOXF1
(A261P)
Indel
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely benign
ADAD2, DNAAF1
+26 more
Deletion
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely pathogenic
FOXF1
(P322fs)
Deletion
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(Y89C)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely pathogenic
FOXF1
(V96L)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely pathogenic
FENDRR, FOXF1
(G20fs)
Deletion
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(F85L)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(G360fs)
Duplication
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FBXO31, ZCCHC14-DT
+9 more
Deletion
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
LINC01082
Deletion
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
LINC01082
Deletion
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(N317fs)
Deletion
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely pathogenic
FOXF1
(L56V)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely pathogenic
FOXF1
(R138P)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely pathogenic
C16orf74, C16orf95
+20 more
Copy number loss
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(P49A)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(I285fs)
Deletion
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(F106L)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(Q288*)
Single nucleotide variant
(nonsense)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(H98Q)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(S180*)
Single nucleotide variant
(nonsense)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(I74N)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
Single nucleotide variant
(stop lost)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(S64*)
Single nucleotide variant
(nonsense)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(G302fs)
Duplication
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
Deletion
(nonsense)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(S30*)
Single nucleotide variant
(nonsense)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(P49S)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(F344fs)
Deletion
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
Single nucleotide variant
(synonymous variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
+1 more
GLikely benign
FOXF1
(A231fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
FOXF1
Single nucleotide variant
(synonymous variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
+1 more
GBenign
FOXF1
Single nucleotide variant
(synonymous variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GUncertain significance
FOXF1
Single nucleotide variant
(stop lost)
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely pathogenic
FOXF1
(N94Y)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
+3 more
GLikely pathogenic
FOXF1
Duplication
(3 prime UTR variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GUncertain significance
FOXF1
Deletion
(3 prime UTR variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
+1 more
GBenign
FOXF1
Deletion
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXF1
Duplication
(3 prime UTR variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GUncertain significance
FOXF1
Duplication
(3 prime UTR variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GBenign
FOXF1
Insertion
(3 prime UTR variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GUncertain significance
FOXF1
Insertion
(3 prime UTR variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
+1 more
GConflicting classifications of pathogenicity
FOXF1
Duplication
(3 prime UTR variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GUncertain significance
FOXF1
(S303N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
FOXF1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
FOXF1
(G23del)
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXF1
Microsatellite
(inframe_insertion)
not provided
+2 more
GConflicting classifications of pathogenicity
Translocation
Alveolar capillary dysplasia with pulmonary venous misalignment
+5 more
GPathogenic
FOXF1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
FOXF1
(Y284fs)
Duplication
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
Single nucleotide variant
(stop lost)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
FOXF1
(Y75*)
Single nucleotide variant
(nonsense)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
Format
Items per page
Sort by
Choose Destination